Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Y109D
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CFTR

NM_000492.4:p.Y109D

Associated Papers

Clinical characteristics and gene analysis in 7 Chinese children with cystic fibrosis.

Guo C et al.

Critical Reviews in Eukaryotic Gene Expression, 2025

A comprehensive review of cystic fibrosis in Africa and Asia.

Abubakar Bobbo K et al.

Saudi Journal of Biological Sciences, 2023

Forskolin-induced organoid swelling is associated with long-term cystic fibrosis disease progression.

Muilwijk D et al.

The European Respiratory Journal, 2022

35086832 (PubMed )
Supplement: ERJ-00508-2021.Supplement.pdf

Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.

Shen Y et al.

Journal of Medical Genetics, 2022

35858753 (PubMed )
Supplement: jmg-2022-108501supp001.pdf

Developmental Functioning Outcomes in Infants With Cystic Fibrosis: A 24- to 36-Month Follow-Up Study.

Tekerlek H et al.

Physical Therapy, 2022

Whole-Exome Sequencing Identified CFTR Variants in Two Consanguineous Families in China.

Yang B et al.

Frontiers in Genetics, 2021

34276759 (PubMed )
Supplement: Data_Sheet_1.docx

CFTR Rescue in Intestinal Organoids with GLPG/ABBV-2737, ABBV/GLPG-2222 and ABBV/GLPG-2451 Triple Therapy.

de Poel E et al.

Frontiers in Molecular Biosciences, 2021

34604301 (PubMed )
Supplement: Table1.XLSX › AUC_values_corrected_for_DMSO

Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis.

Liu K et al.

Orphanet Journal of Rare Diseases, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."